Document Detail

Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction.
MedLine Citation:
PMID:  16901430     Owner:  NLM     Status:  MEDLINE    
Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with large deletions and early onset of weakness. A 26-year-old patient with a long-standing history of hearing loss, learning disabilities, and epilepsy presented with new-onset weakness and an elevated serum creatinine kinase level. Genetic testing confirmed sporadic facioscapulohumeral muscular dystrophy with a fragment length of 12 kilobases (normal > 35 kilobases). This unique presentation suggests that facioscapulohumeral muscular dystrophy should be considered in the differential diagnosis of children with cognitive impairment, seizures, and hearing loss.
Lisa D Hobson-Webb; James B Caress
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  21     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2006 Mar 
Date Detail:
Created Date:  2006-08-16     Completed Date:  2006-09-26     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  Canada    
Other Details:
Languages:  eng     Pagination:  252-3     Citation Subset:  IM    
Department of Neurology, Wake Forest University Baptist Medical Center, Winston-Salem, North Carolina, USA.
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MeSH Terms
Age of Onset
Cognition Disorders / etiology*,  genetics
Diagnosis, Differential
Epilepsy / etiology,  genetics
Hearing Loss / etiology,  genetics
Learning Disorders / etiology,  genetics
Muscular Dystrophy, Facioscapulohumeral / complications*,  genetics

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